Variant report

Variant	rs60526927
Chromosome Location	chr5:118280017-118280018
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118279929..118282608-chr5:118283438..118285433,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17381247	0.81[ASN][1000 genomes]
rs2029036	0.81[ASN][1000 genomes]
rs55866049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863846	1.00[EUR][1000 genomes]
rs73790360	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
3	chr5:118244000-118287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:118253200-118280200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:118257400-118285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:118258000-118280400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:118259600-118286800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:118260600-118289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:118262600-118282800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
13	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:118268400-118286800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:118269600-118286800	Weak transcription	Adipose Nuclei	Adipose
16	chr5:118270400-118291800	Weak transcription	Fetal Intestine Large	intestine
17	chr5:118271600-118288400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:118271800-118286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:118272200-118286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:118273600-118295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:118274000-118280200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:118274000-118288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:118274400-118281800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:118276200-118281200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:118278400-118280400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:118278600-118281000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:118278600-118281000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:118278600-118281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:118278600-118286000	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links